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Case Report
Nutcracker Syndrome: Report of A Case
Ki Joong Kim, Bu Heon Lee, In Cheol Park, Kwang Woo Ko, In One Kim
Clin Exp Pediatr. 1995;38(11):1588-1592.   Published online November 15, 1995
The Nutcracker syndrome refers to compression of the left renal vein between the aorta and the superior mesenteric artery, associated with hematuria, abdominal pain, and varicocele formation. We report a 13-year-old boy with intermittent gross hematuria for 14 months before admission. Ultrasonography shows narrowing of proximal left renal- vein and dilatation of distal left renal vein at the point of superior...
Original Article
Clinical Characteristics of Patients with Tumer' Syndrome according to Karyotypic Differences
Eun Young Kim, Kyoung Sim Kim, Kibok Kim, Won Jin Kee
Clin Exp Pediatr. 1995;38(11):1460-1469.   Published online November 15, 1995
Purpose : To assess the differences of clinical features according to various karyotypes in Turner syndrome. Methods : Subjected to study were 45 patients with Turner syndrome, including 5 newborns, from March 1974 to April 1994. They were divided into 3 groups according to karyotypes: 45,X, mosaicism, and structural aberration; and the clinical features were compared. Also structural aberration groups, 46,XXp-and...
Case Report
A Case of Meckel-Gruber Syndrome
Hye Jin Lee, Eun Ae Park, Gyoung Hee Kim
Clin Exp Pediatr. 1995;38(9):1299-1303.   Published online September 15, 1995
We report a case of male neonate that showed multiple congenital anomalies that could be designated as Meckel-Gruber syndrome. The principle signs of Meckel-Gruber syndrome are encephaolcelem, polydactly, and polycystic kidneys with normal karyotype. Due to rarity of the Meckel-Gruber syndrome, the cause was still unknown. At present, autosomal recessive is thought to be as one of the causes. This malformation...
A Case of Spontaneously Remitted Congenital Minimal Change Nephrotic Syndrome
Tae Sun Ha, Kyung Hee Lee, Beom Soo Park, Heon Seok Han
Clin Exp Pediatr. 1995;38(9):1288-1292.   Published online September 15, 1995
Nephrotic syndrome is a condition with severe proteinuria, hypoalbuminemia, and edema. When the syndrome develops within the first 3 months of life, it is generally considered as congenital and the overall outcome in this group seems to be worse than in miniaml change lesion that occurs at an older age regardless of the pathologic findings. A female infant with congenital nephrotic...
Three Cases of Rotor Syndrome in Monozygotic Twin Brothers and Their Sister
Jin Hwa Jung, Jeong Ho Lee, Yong Sub Kim, Jong Dae Jo
Clin Exp Pediatr. 1995;38(9):1270-1275.   Published online September 15, 1995
We recently experienced three cases of Rotor syndrome in monozygotic twin brothers and their elder sister. The only clinical manifestation was persisting mild jaundice for several years. In all three cases serum bilirubin, mainly of direct reacting was increased with normal liver function and normal hepatic histology without pigmentation by needle liver biopsy. Indocyanine green test showed marked serum retention after...
A Case Report of Acrorenal Syndrome
Soo Hee Chang, Jo Seph Choi, Soo Chul Cho, Dae Yeol Lee
Clin Exp Pediatr. 1995;38(8):1151-1154.   Published online August 15, 1995
Acrorenal syndrome is congenital anomaly of the limbs and urinary tract of unknown etiology. Acral malformations consist of varying combinations of oligodactyly, ectrodactyly, syndactyly, brachydactyly, polydactyly, and carpal, tarsal, or metatarsal fusions of the hands and feet. Urinary tract abnormalities include unilateral renal agenesis and duplication of the collecting system. The condition is a polytopic developmental field defect(acrorenal field) and...
Original Article
Antibody Response to Capsular Polysaccharide Vaccine of Streptococcal Pneumonia in Patients with Nephrotic Syndrom
Ji Young Choi, Jae Ho Lee
Clin Exp Pediatr. 1995;38(8):1107-1115.   Published online August 15, 1995
Purpose : Although the etiology and pathogenesis of child with nephrotic syndrome remains uncertain, it has been suggested from indirect evidence that this syndrome may represent deficiency in T-cell function and abnormal humoral immune response to antigens or immynoglobulin. Children with nephrotic syndrome are susceptible to pneumococcal infection. Now, we performed this study to evaluate pneumococcal anticapsular antibody concentration and...
Case Report
A Case of Chéiak-Higashi Syndrome
Soo Jin Kim, Soo Kyung Choi, Kyung Hee Park, Ghee Young Jung, Young Ok Lee
Clin Exp Pediatr. 1995;38(7):983-987.   Published online July 15, 1995
Chéiak-Higashi syndrome is a rare autosomal recessive disease characterised by partial oculocutaneous albinism, frequent pyogenic infections and abnormal large lysosomal granules in leukocytes and other granule containing cells. We experienced a case of Chéiak-Higashi syndrome in a twenty days old male who show-ed partial albinism, recurrent infections and characteristic abnormal large granules in granuloc-ytes on peripheral blood smear and bone marrow...
A Case of Fetal Hydantoin Syndrome Associated with Cardiac Anomaly
Hae Kyung Lee, Joon Soo Park, Kyeong Bae Park, Young Chang Kim
Clin Exp Pediatr. 1995;38(6):853-856.   Published online June 15, 1995
The fetal hydantoin syndrome is broad range of morphologic and developmental disorder in infant born of epileptic mothers exposed to hydantoin during pregnancy. We experienced a case of fetal hydantoin syndrome in a male neonate who had cleft palate, cleft lip, hypertelorism, TOF, finger hypolasia with prenatal history of exposure to diphenylhydantoin. We presented this case with brief review of literatures.
Original Article
Diagnostic Value of Stable Microbubble Rating test and Efficacy of Surfactant Replacement Therapy in Neonates with Respiratory Distres syndroems
Jeong Hee Kim, Eun Ae Park, Kyung Hee Kim
Clin Exp Pediatr. 1995;38(6):760-770.   Published online June 15, 1995
Purpose : Stable microbubble rating test(SMR) plays an important role in the clinical course and the prognosis of respiratory distress syndrome(RDS) patients, because SMR can be easily performed and it can predict quickly the neonatal RDS. After the success of the pulmonary surfactant replacement therapy in RDS infants by Fujiwara and co-workers in 1980, many supporting studies were presented and...
Case Report
A Case of Antley-Bixler Syndrome
Young Rae Kim, Kook In Park, Choon Sik Yoon, Ran Namgung, Chul Lee, Dong Gwan Han
Clin Exp Pediatr. 1995;38(4):582-585.   Published online April 15, 1995
Antley-Bixler syndrome is a very rare disese of characteristic feature of craniosynostosis, brachycephaly, midface hypoplasia, depressed nasal bridge, radiohumeral synostosis and bowing femur. We presented a case of Antley-Bixtler syndrome with brief review of lituratures.
Two Siblings of Non Salt Losing Congenital Adrenal Hyperplasia due to 21-hydroxylase Deficiency
Seung Cheol Lee, Byung Kyu Suh, Byung Churl Lee
Clin Exp Pediatr. 1995;38(4):574-581.   Published online April 15, 1995
Congenital adrenal hyperplasia in caused by a defect in the biosynthesis of cortisol as a result of deviciency in one of the essential enzymes, most commonly 21-hydroxylase and is an autosomal recessive disease in close genetic linkage with HLA. The common clinical manifestations of congenital adrenal hyperplasia is progressive virilization in both sexes, abnormal external genitalia in the...
A Case of Patent Ductus Arteriosus with Eisenmenger Syndrome Treated by Ligation of PDA
Chang Seon Yoo, Hae Yong Lee, Mee Kyung Namgoong, Jong Soo Kim, Mee Yon Cho, Joong Hwan Oh
Clin Exp Pediatr. 1995;38(2):257-263.   Published online February 15, 1995
We experienced a case of eisenmenger syndrome treated by simple surgical intervention. Eisenmenger syndrome refers to patients with congenital heart defects who have a systemic level of pulmonary arterial pressure and high pulmonary vascular resistance, with right-to-left or bidirectional shunting. Because a progressive rise in pulmonary vascular resistance may be better tolerated with an intracardiac communication, surgical repair in such patients...
G Deletion Syndrome II
Bon Su Koo, Sang Uk Park, Yung Tak Lim, Hee Ju Park
Clin Exp Pediatr. 1995;38(2):240-244.   Published online February 15, 1995
We experienced a case of G deletion syndrome II in a 8 year and 1 month old boy. He showed mental retardation, microcephaly, high arched palate, low set malformed ears, epicanthal fold, thoracic deformity, tracheomegaly and two lumens of esophagus. Chromosomal study showed the deletion of long arm of chromosome 22, kariotypically he was depicted as 46, XY, 22q-. A brief...
Original Article
Sequential Changes of Chest Radiographic Finding after Exogenous Surfactant Replacement Therapy in Neonates with RDS
Hyeok Choi, Chong-Woo Bae, Sa-Jun Chung, Yong-Mook Choi
Clin Exp Pediatr. 1995;38(2):151-158.   Published online February 15, 1995
Purpose : The chest radiograph is useful and reliable in assessing the severity and progres-sion of neonatal respiratory distress syndrome. To evaluate the effect of exogenous surfactant r eplacement therapy, we performed sequential observation of chest radiogratphic findings in ne-onates with respiratory distress syndrome. Methods : Two groups of infant with RDS in mechanical ventilation therapy were studied. S-urfactant(S-Tx) group(n=36) was...
Clinical Differences by Karyotype in Patients with Turner Syndrome
Mi Jung Park, Jin Sung Lee, Kir Young Kim, Duk Hi Kim, Ho Seoung Kim
Clin Exp Pediatr. 1995;38(2):143-150.   Published online February 15, 1995
Purpose : The aim of this study was to evaluate clinical differences by karyotype in Turner Syndrome. Methods : We evaluated 66 patients with Turner syndrome diagnosed at Yonsei University College of medicine from Mar.1985 to Feb.1993. We divided subproups as pure 45,X groups, mosaisism groups and structural aberration groups. Clinical features, serum estrogen, LH, FSH, concentrations, gonadotropin release after GnRH...
Case Report
A Case of Dandy-Walker Syndrome with Complex Cardiac Anomaly
Ssack Joong Yoon, Sung Jin Hong, Hyung Goo Cho, Dong Chul Park
Clin Exp Pediatr. 1995;38(1):110-116.   Published online January 15, 1995
The Dandy-Walker syndrome is a developmental disorder of the brain characterized by cystic dilatation of the fourth ventricle and agenesis or hypoplasia of the cerebellar vermis. We experinced a case of Dandy-Walker syndrome with complex cardiac anomaly in female newborn who presented with apnea at birth. Physical examination showed coloboma on left eye, low estting malformed ear, and high arched...
A Case of Dandy-Walker Syndrome with Chromosomal Abnormality
Hyui Sung Chang, Seok Kyu Lee, Gi Chung Lee, Woo Ki Lee, Kwang Woo Kim
Clin Exp Pediatr. 1994;37(12):1784-1788.   Published online December 15, 1994
The Dandy-Walker syndrome is a developmental disorders of the brain characterized by cystic defromity of the 4th ventricle and agensis of the cerebellar vermis. Other systemic anomalies and chromosomal abnormalities are associated with this syndrome. We are experienced a case in a 9 months old male infant who presented initially with frequent vomiting, low birth weight, On the physical examination, a...
A Case of Remission of Systemic Juvenile Rheumatoid Arthritis (Still's Disease) Treated with High-dose Intravenous Gammaglobulin
Yon Sook Rho, Yun Woo Lee, Sang woo Kim
Clin Exp Pediatr. 1994;37(12):1767-1772.   Published online December 15, 1994
High dose intravenous gammaglobuline (IVIG) therapy is effective in some of the autoimmune diseases. Although the exact mechamism of action of IVIG is uncertain, the action as a neutralizing antibody against unknown etiologic agents, the action of blocking of Fc receptors of effector cells, or the action as a antiidiotypic antibody are suggested. We report a case of 12 year old...
A Case of Sjören-Larsson Syndrome
Kil Joon Lee, Jong Bock Kim, Dong Hwan Lee, Sang Man Shin, Sang Jhoo Lee
Clin Exp Pediatr. 1994;37(12):1757-1761.   Published online December 15, 1994
Sjören-Larsson Syndrome is a rare disorder chracterized by congenital icthyosis, spastic diplegia or tetraplegia and mental retardation. The inheritance is autosomal recessive, due to deficiency of alcohol dehydrogenase activity of fatty acid matabolism. We have experienced a case of Sjören-Larsson Syndrome in a 16 month-old male children who have dried thick skin, developmental delay, and spastic diplegia. He was much improved clinically...
A Case of Wiskott-Aldrich Syndrome
Byoung Geun Lee, Soo Hee Chang, Soo Young Cho, Pyoung Han Hwang, Jung Soo Kim
Clin Exp Pediatr. 1994;37(11):1615-1619.   Published online November 15, 1994
Wiskott-Aldrich Syndrome is an X-linked disorder characterized by recurrent infection, thrombocytopenia and eczema. Various defects in cell-mediated immunity and deficient antibody response to carbohydrate antigens have been described. We experienced a case of Wiskott-Aldrich Syndrome of 28 months old male patient. He has been suffered from multiple petechiae with bleeding, recurrent pyogenic infections and generalized eczema since 3 months of...
A Case of Epstein's Syndrome
Seon Young Choi, Hyun Chul Chae, Hae Young Cho, Hong Bae Kim, Ji Sub Oh
Clin Exp Pediatr. 1994;37(11):1610-1614.   Published online November 15, 1994
Epstein's syndrome is a rare disease whish is characterized by the association of thrombocytopenia, macrothrombocytopathia, nephritis and deafness. We experienced a case of Epstein's syndrome in a 12 years old male patient who was presented with a life long history of bleeding, usually as epistaxis, bilateral sensorineural deafness and hematuria with proteinuria starting in the childhood. Hematologic studies showed thrombocytopenia with...
Adrenogenital Syndrome Combined with Congenital Hypothyroidism
Jong-Woon Choi, Woo-Sik Cheong, In-Kyu Yi
Clin Exp Pediatr. 1994;37(11):1607-1609.   Published online November 15, 1994
Original Article
A Study for Menstruation of School Girl in Ansan
Ae Yeon Lim, Dae Hun Pee, Baik Lin Eun, Sang Hee Park, Soon Kyum Kim
Clin Exp Pediatr. 1994;37(11):1586-1595.   Published online November 15, 1994
Purpose : Menstruation is a great part as the procedure for physiological, psychological development and physical growth, and menstrual disorders are very common problems in adolescence period. These problems can be resolved by interview or appropriate education of normal pubertal development. However unlike other developed countries, systematic report or appropriate education for menstruation may not be performed in our country....
Diagnostic Value of Stable Microbubble Rating Test and Shake Test for the Early Detection of Respiratory Distress Syndrome in Prematurity
Sung Eun Lee, Sang Lak Lee, Chin Moo Kang
Clin Exp Pediatr. 1994;37(11):1500-1507.   Published online November 15, 1994
Respiratory distress syndrome (RDS) of newborn is a disease revealed high morbidity and mortality rate, especially in premature infant. To evaluate the predictive value of Stable Microbubble Rating (SMR) and Shake test on RDS in premature infant, the anthors carried out the gastric aspirates Shake test and SMR test at birth, 3 and 6 hours after birth respectively on 124 premature...
Case Report
A Case of Cerebral Infarcion due to Thrombosis Associated with Focal Segmental Glomerulosclerosis and Steroid Resistant Nephrotic Syndrome
Dae Woo Kim, Heon Lang Park, Sang Man Shin, Eun Mi Kim
Clin Exp Pediatr. 1994;37(9):1317-1324.   Published online September 15, 1994
Focal segmental glomerulosclerosis is the renal histopathologic lesion observed in 10% of children with idopathic nephrotic syndrome. Complications include infection, thrombosis, hypocalcemia and adverse effect of steroid use. The incidnce of thrombosis reported ranges from 10~40%. The pathogenesis are changes in coagulation system, decrease of Antithrombin III, increase platelet aggregability and steroid or diuretics use. These changes take place passively...
A Case of Miescher Syndrome with Insulin-Resistant Diabetes Mellitus
Byung Min Choi, Jong Kwang Lee, Kee Hwan Yoo, Joo Won Lee, Soon Kyum Kim
Clin Exp Pediatr. 1994;37(9):1292-1295.   Published online September 15, 1994
Miescher syndrome comprises congenital acanthosis nigricans, hypertrichosis, failure to thrive and short stature, dysmorphism especially of the jaws and oral cavity. Insulin-resistant diabetes mellitus, and a characteristic general appearance. This report concerns a rare case of 12-year-old girl having insulin resistant diabetic mellitus with Miescher syndrome. The relevant literature was reviewed.
Original Article
The Roles of IgG and Albumin as a Predictor of Frequent Relapse
Jae-Ho Lee, Jong-Gyun Kim
Clin Exp Pediatr. 1994;37(9):1245-1250.   Published online September 15, 1994
The etiology of nephrotic syndrome is unknown. The characterization were proteinuria, hypoalbuminemia, generalized edema and hyperlipidemia. To assess the recurrence factors in the nephrotic syncrome, we measured serum immunoglobulin(IgG, IgA, IgM), albumin, complement, cholesterol and the 24-hour total urine protein at the initial relapse of nephrotic syndrome. Each data of frequent and infrequent relapsed nephrotic syndrome were compared. In total...
Case Report
Three Cases of Apert Syndrome (Acrocephalosyndactyly)
Young Sil Ahn, Jong Won Lee, Jin Keon Bang, Doo Bong Lee
Clin Exp Pediatr. 1994;37(8):1149-1155.   Published online August 15, 1994
Apert syndrome is an uncommon, congenital disorder characterised by malformation of the skull, most often acrocephaly or oxycephaly, in association with symmetrical syndactyly of both hands and feet. It is due to disturbance in the growth of bone and soft tissue affecting principally the head, the hands and the feet. The original description was presented by Troquart in 1886, and...
Original Article
Incidence and Perinatal Risk Factors of Respiratory Distress Syndrome of Newborn
Yun Sil Chang, Beyong Il Kim, Jung-Hwan Choi, Chong Ku Yun
Clin Exp Pediatr. 1994;37(8):1065-1077.   Published online August 15, 1994
Over a continuous 4-year period, from January 1989 till December 1992, 7,100 infants were born in Department of Obstetrics and admitted to Nursery or Neonatal Intensive Care Unit of Department of Pediatrics of Seoul National University Children's Hospital. Among them, 126 cases were diagnosed as respiratory distress syndrome (RDS) of newborn. The total incidence of RDS among all the newborns(inborn)was 1.77%....
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